List of variants in gene CBS reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	rs5742905	0.00083
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	rs28934891	0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)	rs121964962	0.00025
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	rs148865119	0.00013
NM_000071.3(CBS):c.700G>A (p.Asp234Asn)	rs773734233	0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met)	rs758236584	0.00010
NM_000071.3(CBS):c.1224-2A>C	rs375846341	0.00008
NM_000071.3(CBS):c.572C>T (p.Thr191Met)	rs121964973	0.00006
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)	rs373782713	0.00004
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	rs771298943	0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	rs121964972	0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)	rs863223434	0.00003
NM_000071.3(CBS):c.737-1G>C	rs757428597	0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met)	rs149119723	0.00003
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	rs398123151	0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)	rs778220779	0.00002
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)	rs775992753	0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	rs121964966	0.00002
NM_000071.3(CBS):c.689del (p.Leu230fs)	rs775351239	0.00002
NM_000071.3(CBS):c.1111G>A (p.Val371Met)	rs372010465	0.00001
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)	rs763036586	0.00001
NM_000071.3(CBS):c.463G>A (p.Ala155Thr)	rs1429138569	0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	rs121964969	0.00001
NM_000071.3(CBS):c.828+1G>A	rs763290176	0.00001
NM_000071.3(CBS):c.1005_1006delinsTT (p.Arg336Cys)	rs1064793703
NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)	rs1304669003
NM_000071.3(CBS):c.19dup (p.Gln7fs)	rs748695461
NM_000071.3(CBS):c.209+1G>A	rs751464024
NM_000071.3(CBS):c.253G>A (p.Gly85Arg)	rs863223435
NM_000071.3(CBS):c.429C>G (p.Ile143Met)	rs370167302
NM_000071.3(CBS):c.667-14_667-7del	rs764160782
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	rs763835246
NM_000071.3(CBS):c.736+2T>G	rs863223430
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	rs863223432

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